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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGS

Variant:p.V67D

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HGS

NM_004712.5:p.V67D

hg38:chr17:81687004 T>A

Associated Papers

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Tominaga K et al.

Iscience, 2022

35028538 (PubMed )

Supplement: mmc1.pdf

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